DMD: continuum of disease and importance of continuation of care, relating to Cardiopathology
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DMD: continuum of disease and importance of continuation of care, relating to Cardiopathology
Dr. Chet Ridall Villa from Cincinnati Children’s Hospital Medical Center specializes in Cardiomyopathy, Heart Failure, and Transplantation and is particularly passionate for taking care of children and young adults with Duchenne muscular dystrophy (DMD), RASopathies, and those in need of ventricular assist device therapy and heart transplant. Together with Dr. Villa in this episode we…
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Caregiver of the Year in UK CAN-paining for disability and rare disease rights
Shelley Simmonds is a mother and carer who has used her personal experiences to campaign for better resources and care for those in the Duchenne, rare disease and disability communities. As a mother of two from Essex in the UK, Shelley experienced the effects of Duchenne firsthand when her son, Fraser, was diagnosed with the…
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DMD: continuum of disease and importance of continuation of care
This episode is dedicated to discussing Duchenne Muscular Dystrophy (DMD) continuum of disease and importance of continuation of care in Duchenne Muscular Dystrophy (DMD). Hear from our expert guest speaker, Dr. Mayer from Children’s Hospital of Philadelphia (CHOP) about the recommended DMD standard of care guidelines with regards to ongoing patient management and care. Return…
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Feriel CAN inspire other women with Duchenne
Feriel Chebba is a 30-year-old woman who is living with Duchenne in France. Diagnosed at 6 years old following a muscle biopsy, Ferial has used a wheelchair since she was 11 years old. But her diagnosis hasn’t stopped her from having a positive outlook and living in the moment. After primary school, Feriel attended college…
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Philip Jönsson’s Journey to Gold
Philip Jönsson is the reigning Paralympic gold medalist in the mixed 10m air rifle standing event and the first person ever with Duchenne to win a gold medal in any event at the Paralympics. We asked him how he prepared for Tokyo 2020, and about his plans to defend his title. How and when did…
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Lizanne Schreur: Aspiring screen writer living with Duchenne
Lizanne Schreur is a 22-year-old Digital Television Production student based in London. She was born and raised in Netherlands where she grew up in a big family with three older brothers. At three years old, Lizanne was diagnosed with Duchenne. The occurrence of Duchenne is very rare among females and often manifests differently than it…
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Laura CAN honor her sibling through her work
Laura D’Annunzio is part of our PTC patient engagement team in Argentina who knows first-hand what it is like to be affected by Duchenne. Born in Posadas, a city located in north-east of Argentina, Laura and her twin brother are the eldest of four children. Her younger brother, Alejandro, was born when Laura was 8…
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Gabriela CAN inspire children to embrace their differences
Meet Gabriela, young and talented author of a children’s book called Timothy’s Magic Wheelchair. The book is all about a young man by the name of Timothy who never really liked his wheelchair and what it stood for. So much so, that he wasn’t sad or upset when it broke down. However, this all changed…
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Hulda’s Dancing for Duchenne CAN bring joy and happiness
Hulda Svansdóttir is a mother of three, caregiver and Duchenne advocate from Iceland. Hulda’s life was transformed when her youngest son, Ægir, was diagnosed with Duchenne when he was four and a half years old. However, despite knowing little about the disease, when Hulda found out her son may be eligible for treatment, she was…
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Introducing Insightful Moments™, a Rare Disease Patient Education Series
En español haz clic aquí Living with a rare disease or caring for someone with a rare disease comes with many challenges. In addition to processing new and complicated information and making countless decisions, it can be tough to know where to turn to for help, or where to even begin. To help support patients…